ABSTRACT
Over the past decades, daughter designs, including genotyped sires and their genotyped daughters, have been used as an approach to identify QTL related to economic traits. The aim of this study was to identify genomic regions inherited by Gir sire families and genes associated with number of viable oocytes (VO), total number of oocytes (TO), and number of embryos (EMBR) based on a daughter design approach. In total, 15 Gir sire families were selected. The number of daughters per family ranged from 26 to 395, which were genotyped with different SNP panels and imputed to the Illumina BovineHD BeadChip (777K) and had phenotypes for oocyte and embryo production. Daughters had phenotypic data for VO, TO, and EMBR. The search for QTL was performed through GWAS based on GBLUP. The QTL were found for each trait among and within families based on the top 10 genomic windows with the greatest genetic variance. For EMBR, genomic windows identified among families were located on BTA4, BTA5, BTA6, BTA7, BTA8, BTA13, BTA16, and BTA17, and they were most frequent on BTA7 within families. For VO, genomic windows were located on BTA2, BTA4, BTA5, BTA7, BTA17, BTA21, BTA22, BTA23, and BTA27 among families, being most frequent on BTA8 within families. For TO, the top 10 genomic windows were identified on BTA2, BTA4, BTA5, BTA7, BTA17, BTA21, BTA22, BTA26, and BTA27, being most frequent on BTA7 and BTA8 within families. Considering all results, the greatest number of genomic windows was found on BTA7, where the VCAN, XRCC4, TRNAC-ACA, HAPLN1, and EDIL3 genes were identified in the common regions. In conclusion, 15 Gir sire families with 26 to 395 daughters per family with phenotypes for oocyte and embryo production helped to identify the inheritance of several genomic regions, especially on BTA7, where the EDIL3, HAPLN1, and VCAN candidate genes were associated with number of oocytes and embryos in Gir cattle families.
Subject(s)
Genotype , Oocytes , Phenotype , Animals , Cattle/genetics , Female , Quantitative Trait Loci , Male , Genome , Genomics , Breeding , Genome-Wide Association Study/veterinary , Polymorphism, Single NucleotideSubject(s)
Alopecia , Lichen Planus , Humans , Alopecia/complications , Alopecia/pathology , Lichen Planus/complications , Lichen Planus/pathology , Retrospective Studies , Female , Male , Middle Aged , Aged , Adult , Fibrosis , Aged, 80 and overABSTRACT
Pesticides have been pointed out as hormone disruptors and may significantly affect the prognosis of hormone-dependent diseases such as breast cancer (BC). Here, we investigated the impact of occupational pesticide exposure on systemic cortisol levels in female rural workers diagnosed with BC. Occupational exposure was assessed by interviews with a standardized questionnaire. Plasma samples (112 from pesticide-exposed women and 77 from unexposed women) were collected in the afternoon, outside the physiological cortisol peak, and analyzed by a chemiluminescent paramagnetic immunoassay for the quantitative determination of cortisol levels in serum and plasma. The results from both groups were categorized according to patients' clinicopathological and exposure data. BC pesticide-exposed women presented higher levels of cortisol than the unexposed. Higher cortisol levels were also detected in the exposed group with more aggressive disease (triple-negative BC), with tumors over 2 cm, with lymph node metastases, and with high risk of disease recurrence and death. These findings demonstrated that there is an association between pesticide exposure and BC that affected cortisol levels and correlated to poor disease prognosis.
Subject(s)
Breast Neoplasms , Occupational Exposure , Pesticides , Humans , Female , Hydrocortisone , Lymphatic MetastasisABSTRACT
Pesticides have been pointed out as hormone disruptors and may significantly affect the prognosis of hormone-dependent diseases such as breast cancer (BC). Here, we investigated the impact of occupational pesticide exposure on systemic cortisol levels in female rural workers diagnosed with BC. Occupational exposure was assessed by interviews with a standardized questionnaire. Plasma samples (112 from pesticide-exposed women and 77 from unexposed women) were collected in the afternoon, outside the physiological cortisol peak, and analyzed by a chemiluminescent paramagnetic immunoassay for the quantitative determination of cortisol levels in serum and plasma. The results from both groups were categorized according to patients' clinicopathological and exposure data. BC pesticide-exposed women presented higher levels of cortisol than the unexposed. Higher cortisol levels were also detected in the exposed group with more aggressive disease (triple-negative BC), with tumors over 2 cm, with lymph node metastases, and with high risk of disease recurrence and death. These findings demonstrated that there is an association between pesticide exposure and BC that affected cortisol levels and correlated to poor disease prognosis.
ABSTRACT
Mussels of order Unionida are a group of strictly freshwater bivalves with nearly 1,000 described species widely dispersed across world freshwater ecosystems. They are highly threatened showing the highest record of extinction events within faunal taxa. Conservation is particularly concerning in species occurring in the Mediterranean biodiversity hotspot that are exposed to multiple anthropogenic threats, possibly acting in synergy. That is the case of the dolphin freshwater mussel Unio delphinus Spengler, 1793, endemic to the western Iberian Peninsula with recently strong population declines. To date, only four genome assemblies are available for the order Unionida and only one European species. We present the first genome assembly of Unio delphinus. We used the PacBio HiFi to generate a highly contiguous genome assembly. The assembly is 2.5 Gb long, possessing 1254 contigs with a contig N50 length of 10 Mbp. This is the most contiguous freshwater mussel genome assembly to date and is an essential resource for investigating the species' biology and evolutionary history that ultimately will help to support conservation strategies.
Subject(s)
Bivalvia , Common Dolphins , Unio , Animals , Bivalvia/genetics , Ecosystem , Fresh Water , GenomeABSTRACT
The present outbreak of Human Monkeypox (HMPX) that has begun in May 2022 and has spread across all continents in less than two months has qualitative and quantitative characteristics that make it different from the pattern of human disease previously caused by this virus. It has spread with enormous ease, affects almost exclusively adults, behaves as a sexually transmitted disease and focuses on very specific groups and transmission conditions. The high incidence in the city of Madrid in males that have sex with males (MSM) has allowed us to observe and report the experience with the first 30 cases diagnosed in our institution. Patients presented with febrile symptoms, genital and paragenital skin lesions reminiscent of smallpox, but less extensive and severe. The disease may also cause proctitis, pharyngitis and perioral lesions. The PCR test for diagnostic confirmation has been shown to be very sensitive and effective, not only in skin lesions but also in blood and other fluids such as pharyngeal, rectal exudates and blood. A very high proportion of patients with HMPX also have other sexually transmitted diseases that must be actively detected in this context. The spontaneous evolution of our patients has been good and hospitalization has been practically unnecessary. Transmission to non-sexual cohabitants and health personnel has been nonexistent and the lesions have disappeared in less than 30 days without leaving sequelae and no need for specific antiviral treatment.
Subject(s)
Mpox (monkeypox) , Sexual and Gender Minorities , Adult , Male , Humans , Spain , Tertiary Care Centers , Homosexuality, Male , Disease Outbreaks , DemographyABSTRACT
OBJECTIVES: Asthma and obesity are complex disorders influenced by environmental and genetic factors. We performed an integrative review of genetic polymorphisms and adipokines effects in children and adolescents with asthma and obesity. DATA SOURCES: Articles focused on these issues were collected from SciELO, PubMed, LILACS, Embase and ScienceDirect electronic databases, in 2009-2020 period. STUDY SELECTIONS: 22 articles were selected, including clinical trials, analyses approaches, case-control studies, meta-analysis and Mendelian randomization studies. RESULTS: Leptin concentrations were higher in obesity and asthma. The high value of BMI and Leptin indicated severe asthma. Adiponectin may be reduced in obese children. The high value of BMI and low level of Adiponectin may indicate severe asthma. Some linkage of PRKCA gene, asthma and BMI was observed. FTO T allele rs62048379 was positively associated with overweight/obesity, related to protein and PUFA:SFA ratio intake and influences the choice of more energy-dense foods. FTO rs9939609 effects are more pronounced among children with insufficient vitamin D levels. CONCLUSION: Leptin may be a potential predictor for asthma control in children. BMI and Adiponectin could have certain predictive value for asthma. FTO gene was related to a higher mean BMI Z-score and accelerated developmental age per allele. Strong genetic heterogeneity influencing on asthma and obesity susceptibilities is evident and related to distinct genetic features. GWAS with childhood obesity in asthma contributed to greater insights, mainly on later childhood. Standardized definitions for asthma and overweight/obesity in studies approaching adipokines and SNPs would provide stronger evidence in deciding the best management.
Subject(s)
Asthma , Pediatric Obesity , Adolescent , Child , Humans , Leptin/genetics , Adiposity/genetics , Polymorphism, Single Nucleotide , Overweight , Pediatric Obesity/genetics , Adiponectin/genetics , Body Mass Index , Genotype , Asthma/genetics , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/geneticsABSTRACT
The aims of this cohort study were to compare the mandibular morphology between patients with Robin sequence (RS) and controls, and to examine the effects of mandibular distraction osteogenesis (MDO) using different vectors. Measurements of the mandibles of 80 patients with RS and 46 controls aged< 90 days were made using computed tomography. The data were compared among isolated RS patients (n = 58), syndromic RS patients (n = 22), and controls. Patients with RS exhibited significantly shorter ramus and body lengths and larger symphyseal angles than controls (all P < 0.001). Patients with isolated RS had shorter body lengths (P < 0.001), while syndromic patients had shorter ramus and body lengths (both P < 0.001) than controls. Seventy RS patients underwent MDO. Pre-MDO (n = 37) and post-MDO (n = 29) mandibular measurements were compared between patients undergoing MDO with a vertical vector and those undergoing MDO with a horizontal vector. Polysomnography data from part of the cohort highlighted the effectiveness of both vectors. MDO with a horizontal vector conferred 11% and 36% increases in ramus and body length, respectively, while these increases were 34% and 27.5%, respectively, with a vertical vector. MDO with a vertical vector was effective in lengthening ramus and body components and should be considered in the presence of ramus hypoplasia.
Subject(s)
Airway Obstruction , Osteogenesis, Distraction , Pierre Robin Syndrome , Humans , Infant , Cohort Studies , Retrospective Studies , Osteogenesis, Distraction/methods , Mandible/abnormalities , Polymers , Treatment OutcomeSubject(s)
Humans , Male , Female , Young Adult , Adult , Middle Aged , Aged , Mastocytosis/complications , Coronavirus Infections/complicationsABSTRACT
Cisplatin is an effective antineoplastic agent, but its use is limited by its nephrotoxicity caused by the oxidative stress in tubular epithelium of nephrons. On the other hand, regular exercise provides beneficial adaptations in different tissues and organs. As with many drugs, dosing is extremely important to get the beneficial effects of exercise. Thus, we aimed to investigate the influence of exercise intensity and frequency on cisplatin-induced (20 mg/kg) renal damage in mice. Forty male Swiss mice were divided into five experimental groups (n=8 per group): 1) sedentary; 2) low-intensity forced swimming, three times per week; 3) high-intensity forced swimming, three times per week; 4) low-intensity forced swimming, five times per week; and 5) high-intensity forced swimming, five times per week. Body composition, renal structure, functional indicators (plasma urea), lipid peroxidation, antioxidant enzyme activity, expression of genes related to antioxidant defense, and inflammatory and apoptotic pathways were evaluated. Comparisons considered exercise intensity and frequency. High lipid peroxidation was observed in the sedentary group compared with trained mice, regardless of exercise intensity and frequency. Groups that trained three times per week showed more benefits, as reduced tubular necrosis, plasma urea, expression of CASP3 and Rela (NFkB subunit-p65) genes, and increased total glutathione peroxidase activity. No significant difference in Nfe2l2 (Nrf2) gene expression was observed between groups. Eight weeks of regular exercise training promoted nephroprotection against cisplatin-mediated oxidative injury. Exercise frequency was critical for nephroprotection.
Subject(s)
Antioxidants , Cisplatin , Animals , Antioxidants/pharmacology , Cisplatin/toxicity , Lipid Peroxidation , Male , Mice , Oxidative Stress , Swimming , UreaABSTRACT
The objective of this study is to verify in vitro susceptibility of Pythium insidiosum against the agricultural fungicides mefenoxam and pyraclostrobin and evaluate the toxicity of both compounds. Twenty-one P. insidiosum isolates were tested against mefenoxam and pyraclostrobin using the broth microdilution method. Minimum inhibitory and oomicidal concentrations for both compounds were established. Additionally, scanning electron microscopy was performed on P. insidiosum hyphae treated with the sublethal concentration of each fungicide. The toxicity of the compounds was evaluated in vivo Caenorhabditis elegans model. The concentration to inhibit 100% of P. insidiosum growth ranged from 0·625 to 10 µg ml-1 for mefenoxam and from 0·019 to 5 µg ml-1 for pyraclostrobin. The SEM analysis revealed changes on the surface of the hyphae treated with the fungicides, suggesting possible damage caused by these compounds. There was no evidence of toxicity in vivo models. Mefenoxam and pyraclostrobin did not show toxicity at the doses evaluated and have inhibitory effects on the pathogenic oomycete P. insidiosum. However, further evaluations of their pharmacokinetics and toxicity in different animal species and possible pharmacological interactions are necessary to infer a possible use in the clinical management of pythiosis.
Subject(s)
Fungicides, Industrial , Pythium , Animals , Fungicides, Industrial/pharmacology , Microbial Sensitivity TestsABSTRACT
Diabetes is associated with a worse prognosis and a high risk of morbidity and mortality in COVID-19 patients. We aimed to evaluate the main factors involved in the poor prognosis in diabetic patients. A total of 984 patients diagnosed with COVID-19 admitted to the hospital were included in this study. Patients were first divided into type-2 diabetic (DM+) and non-diabetic (DM-) groups. The participants were analyzed based on the National Early Warning Score (NEWS) and on the Quick-Sequential Organ Failure Assessment (qSOFA) to find the best prognostic risk score for our study. The DM+ and DM- groups were divided into non-severe and severe groups. Comparative and correlative analyses were used to identify the physiological parameters that could be employed for creating a potential risk indicator for DM+ COVID-19 patients. We found a poorer prognosis for the DM+ COVID-19 patients with a higher ICU admission rate, mechanical ventilation rate, vasopressor use, dialysis, and longer treatment times compared with the DM- group. DM+ COVID-19 patients had increased plasma glucose, lactate, age, urea, NEWS, and D-dimer levels, herein referred to as the GLAUND set, and worse prognosis and outcomes when compared with infected DM- patients. The NEWS score was a better indicator for assessing COVID-19 severity in diabetic patients than the q-SOFA score. In conclusion, diabetic COVID-19 patients should be assessed with the NEWS score and GLAUND set for determining their prognosis COVID-19 prognosis.
Subject(s)
COVID-19 , Diabetes Mellitus, Type 2 , Sepsis , COVID-19/complications , Diabetes Mellitus, Type 2/complications , Hospital Mortality , Humans , Intensive Care Units , Organ Dysfunction Scores , ROC Curve , Retrospective Studies , Sepsis/diagnosisABSTRACT
[This corrects the article DOI: 10.1093/ofid/ofab250.].
ABSTRACT
OBJECTIVE: Following the approval of bezlotoxumab in 2017, studies evaluating its effectiveness in prevention of Clostridioides difficile infection under "real-life" conditions are scarce. METHODS: We conducted a retrospective study developed in a large tertiary care hospital describing the use and outcomes of patients with Clostridioides difficile infection (CDI) treated with bezlotoxumab. RESULTS: A total of 16 patients were include, all of whom had an episode of CDI with high probability of recurrence and 14 of them had some kind of immunosuppression. Bezlotoxumab was effective in the prevention of CDI recurrence in 11 of the 14 cases in which follow up was possible, without significant side effects. CONCLUSIONS: Bezlotoxumab was well tolerated and the incidence of recurrent CDI in a high-risk population for recurrence was only 21.4%.
Subject(s)
Clostridioides difficile , Clostridium Infections , Anti-Bacterial Agents/adverse effects , Antibodies, Monoclonal , Broadly Neutralizing Antibodies , Clostridium Infections/drug therapy , Clostridium Infections/epidemiology , Humans , Recurrence , Retrospective StudiesSubject(s)
Lichen Planus , Quality of Life , Alopecia , Cross-Sectional Studies , Fibrosis , Humans , Lichen Planus/complicationsABSTRACT
Cereus hildmannianus is a cactus exhibiting morphological and physiological adaptation of its cladodes which ensuring growth in climatic and soil conditions unfavourable for many plant species. Currently, limited water resources and increasing demand for renewable energy make cacti a biomass source for the production of biofuels. Somaclones regenerated from callus in vitro can be a source of new raw material in useful plants. The objective of this work was to determine if the regenerated plants showing two different morphologies present polysaccharide composition different from the wild plant. Somaclones aqueous extraction shows the absence of soluble polysaccharides as mucilage. The alkaline extraction of in vivo cultivated plant showed the presence of starch, type I arabinogalactan, and arabinoxylan and the somaclones showed type I arabinogalactan and arabinoxylan in both morphologies. Hemicelluloses found in the somaclones are not different from in vivo cultivated plants, but somaclones not almost biosynthesize mucilage and starch.
Subject(s)
Cactaceae , Cactaceae/metabolism , Cell Wall/metabolism , Plants/metabolism , Polysaccharides , StarchABSTRACT
Cisplatin is an effective antineoplastic agent, but its use is limited by its nephrotoxicity caused by the oxidative stress in tubular epithelium of nephrons. On the other hand, regular exercise provides beneficial adaptations in different tissues and organs. As with many drugs, dosing is extremely important to get the beneficial effects of exercise. Thus, we aimed to investigate the influence of exercise intensity and frequency on cisplatin-induced (20 mg/kg) renal damage in mice. Forty male Swiss mice were divided into five experimental groups (n=8 per group): 1) sedentary; 2) low-intensity forced swimming, three times per week; 3) high-intensity forced swimming, three times per week; 4) low-intensity forced swimming, five times per week; and 5) high-intensity forced swimming, five times per week. Body composition, renal structure, functional indicators (plasma urea), lipid peroxidation, antioxidant enzyme activity, expression of genes related to antioxidant defense, and inflammatory and apoptotic pathways were evaluated. Comparisons considered exercise intensity and frequency. High lipid peroxidation was observed in the sedentary group compared with trained mice, regardless of exercise intensity and frequency. Groups that trained three times per week showed more benefits, as reduced tubular necrosis, plasma urea, expression of CASP3 and Rela (NFkB subunit-p65) genes, and increased total glutathione peroxidase activity. No significant difference in Nfe2l2 (Nrf2) gene expression was observed between groups. Eight weeks of regular exercise training promoted nephroprotection against cisplatin-mediated oxidative injury. Exercise frequency was critical for nephroprotection.